Focused Newborn Screening Panel

The Focused Newborn Screening Panel analyzes genes associated with metabolic conditions present in the Saudi newborn screening (NBS) program. This panel may be appropriate for symptomatic infants, premature infants, or babies in the neonatal intensive care unit where confounding factors, such as liver immaturity or total parenteral nutrition, cause an increased chance of ambiguous screening results on traditional, biochemical-based testing. Genetic testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions.